Check out this article discussing the functional nature of the Alzheimer's associated Presenilin 1 mutations, are the mutations gain-of-function or loss-of-function, it seems that this is a very hot area of research. The author is here at Harvard, I think that it would be great if we can get her to attend the Simposium! Shen et al. PNAS 2007.pdf

In this paper PresenilinMet146Leu.pdf, researchers have mapped the pedigree of all known individuals with a specific mutation in Presenilin that causes familial early-onset Alzheimer's. 148 affected individuals dating back to the seventeenth century were shown to have a single common ancestor originating from Southern Italy!

This review outlines the three genes associated with familial AD and describes the clinical and genetic features of the disease. Diagram: specific regions in PSEN1 and 2 that are prone to mutation. reviewal.pdf

I think that the following statements are really important in this article [conclusion section]

Despite the conservation of important basic cell processes in Drosophila and mammals, there are likely to be subtle but important differences between the organisms that might result in observations in Drosophila that are not relevant to human disease.

There might also be important cellular pathways that require specific molecules that are not present in the fly.

Animal models can serve as models, but they are not humans themselves. I think research with these models should be taken with a grain of salt although they can be incredibly helpful. Since the goal of research to to better understand FAD so that drugs can be formulated to better combat the disease, again, with drug design, dissimiliarities between animals models and humans will also be an issue.

Interesting article. I'm wondering how exactly high cholesterol as well as strokes and head injuries increase likelihood for developing AD. It's interesting how question that remain include things like "why does B-amyloid congregate and why can't the brain get rid of its excess". I also wonder how much progress has been made to answer these questions.

Dr. Jie Shen, who has made groundbreaking contributions to our understanding of the functional nature of Presenilin mutations has confirmed participation on the symposium as one of our panelist!!! see her lab's website: http://www.shenlab.net

Yakeel Quiroz, also a panelist in the Alzheimer's symposium, is featured in this article from the Alzheimer's forum. This article describes her work with families suffering from familial early onset Alzheimer's disease in Colombia

I think the work she is doing over there is really amazing. I'm excited to hear to talk about it more! I'm wondering though about something she mentioned in the article---why is it notoriously hard to get participants to join clinical trials regarding ADAD? Is it because the drugs tested can sometimes do more harm than good? I wonder if there have been any clinical horror stories surrounding this kind of testing...Also the "forget me not" foundation is really interesting. I like the name. I feel like in a lot of ways, it could be expanded to support people suffering from AD in not just Columbia, but in many other poorer communities around the world. I think it is very true that in general, close friends and family are the ones who put in the most time and effort to take care of someone with AD. They are the most burdened, emotionally, physically, and financially. Especially in poorer-communities, the financial part really plays a role. There definitely should be more public or private organizations like Forget Me Not to provide support to these communities.

Dr. Adrian J. Ivinson, the director of the Harvard NeuroDiscovery Center has confirmed his participation in our symposiums, he will shuttle between the Alzheimer's and the Parkinson's events. See a link to the center's website:

If anyone's interested in some recent Alzheimer's developments, there are two big new articles in last Monday's Nature Genetics covering a bunch of new genes related to Alzheimer's. Not strictly, early onset, but still pretty interesting.nature_genetics2.pdf

I really like this article. I think it's interesting that detailed information regarding the psychological impact of genetic testing is only available for two disease: HD and Breast Cancer. I feel that it is even more important to have this sort of information available for genetic testing of AD, since there is no really effective treatment for AD. Many people view diagnosis of AD as a "death sentence" since there is no cure. When weighing the benefits of genetic testing for AD with the anxiety and depression that may result from "knowing" it seems hard to tell right away, which option is best.

There was a very interesting article posted in the European Journal of Neurology in 2007 that one of my classes reviewed in our unit on Alzheimer's. A novel mutation (L286P) in the PSEN 1 gene is now being connected to FAD. Its worth reading. "A novel mutation in the PSEN1 gene (L286P) associated with familial early-onset dementia of Alzheimer type and lobar haematomas".

Hey guys, I'm not sure if anyone still needs resources for GDP, but this might help people with their policy ideas. There are a lot of fundamental issues highlighted and some basic recommendations to address them:

I think the point they make in here about "expansion"---expanding resources, funding, for people under the age of 60 suffering from FAD is really important. FAD only affects a small percentage of the population, but people should really be aware of the possibility and once diagnosed, be able to seek help. People always think that AD is something that only affects old people, but that's not true. If we have more organizations that provide information and treatment for FAD for people <60, I think the younger generation as a whole will be more prepared and better off.